Associated Papers
Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).
Yuan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.
Gechijian LN et al.
Acs Chemical Biology, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A et al.
Neuropharmacology, 2019
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
Mencarelli MA et al.
American Journal of Medical Genetics. Part A, 2011
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH et al.
Human Mutation, 2007
Functional insights into the creatine transporter.
Christie DL
Sub-cellular Biochemistry, 2007
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0
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